EGFR inhibitor response
Colorectal cancer (CRC), hereditary non-polyposis colon cancer (HNPCC), metastatic melanoma, papillary thyroid carcinoma;
BRAF Mutation in Melanoma
The FDA has cleared Zelboraf™ (Vemurafenib) for the treatment of unresectable or metastatic melanoma patients with BRAF V600E mutation-positive tumors. Zelboraf significantly improved overall survival in people with previously untreated BRAF V600E mutation-positive metastatic melanoma, compared to chemotherapy.
BRAF V600E gene mutation is present in 30-60% of cutaneous melanomas.
Next Generation Sequencing Targeted HotSpots
QIAGEN® Human Tumor Actionable Mutations Panel (GeneRead™ DNAseq Targeted Panels V2) for targeted enrichment
Formalin Fixed Paraffin Embedded tissue block or slides (3-5 slides at 5 micron minimum) NOTE: Include a surgical pathology report with the sample
5.0 mL (min. 3.0 mL) whole blood EDTA, Sodium Heparin or ACD
3.0 mL (min. 1.0 mL) bone marrow EDTA, Sodium Heparin or ACD
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample)
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Utilized as an independent predictor of colorectal cancer (CRC) patient responsiveness to EGFR inhibitor therapy and to assist with the differentiation of microsatellite instability high (MSI-H) hereditary non-polyposis colon cancer (HNPCC) from sporadic MSI-H CRC.
Between 40 and 60% of melanomas have an activating mutation in the gene encoding BRAF. A Phase III study by Genentech showed vemurafenib significantly improved overall survival in people with previously untreated BRAF V600 mutation-positive metastatic melanoma, compared to chemotherapy.
BRAF mutations are also found in 40-45% of papillary carcinomas, the overwhelming majority comprised of a BRAF kinase activating V600E mutation, for which there is only 10% prevalence in follicular variants of papillary carcinoma. BRAF mutation V600E is an unfavorable prognostic indicator, yet to be validated as a tool for stratifying surgery versus adjuvant therapy. American Thyroid Association recommends molecular testing may be considered for indeterminate cytology.
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